omia.variant:699

Genomic description: NC_006597.3:g.18332036_18332037ins[A[29];GGAAGCAACAGGATG]

Coding DNA description: NM_001313773.1:c.142_143ins[A[29];GGAAGCAACAGGATG]

Protein description: NP_001300702.1:p.(I49Kfs*26)

Gene: RPGRIP1

Phenes where this variant occurs: